Disease #00173

Official abbreviation SLOS
Name Smith-Lemli-Opitz syndrome (SLOS)
OMIM ID 270400
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 454
Phenotype entries for this disease 460
Associated with 1 gene DHCR7
Associated tissues -
Disease features -
Remarks -


Individuals

454 entries on 5 pages. Showing entries 1 - 100.
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00001956 - - - M ? Germany - - - - - SLOS 2-3 toe syndactyly; hexadactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001957 - - - F ? Germany Caucasian - - - - SLOS ascertainment clinical presentation DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001958 - - - M ? Germany Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly APOE, DHCR7 APOE, BRCA1, BRCA2, DHCR7 19 1 Division of Human Genetics, Innsbruck
00001959 - - - F ? Germany Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001960 - - - M ? Germany Caucasian - - - - SLOS 2-3 toe syndactyly; hexadactyly; microcephaly; agenesis of corpus callosum DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001961 - - - F ? Germany;Turkey Caucasian - - - - SLOS ascertainment clinical presentation DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001962 - - - M ? Germany Caucasian - - - - SLOS 2-3 toe syndactyly DHCR7 DHCR7, EYS 3 1 Division of Human Genetics, Innsbruck
00001963 - - - M ? Germany Caucasian - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001964 - - - F ? Germany Caucasian - - - - SLOS ascertainment clinical presentation; hexadactyly; microcephaly APOE, DHCR7 APOE, BRCA1, BRCA2, DHCR7 18 1 Division of Human Genetics, Innsbruck
00001965 - - - F ? Germany Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly; Hexadactyly; hypoplasia of the corpus callosum DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001966 - - - F ? Germany Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly APOE, DHCR7 APOE, BRCA1, BRCA2, DHCR7 24 1 Division of Human Genetics, Innsbruck
00001967 - - - M ? Germany Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001968 - - - F ? - - - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001969 - - - M ? Germany;Poland Caucasian - - - - SLOS 2-3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001970 - - - M ? Germany Caucasian - - - - SLOS ascertainment clinical presentation DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001971 - - - M ? Germany;Poland Caucasian - - - - SLOS ascertainment clinical presentation; postaxial polydactyly, 2-3 toe syndactyly, hypospadia, decreased head circumference APOE, DHCR7 APOE, DHCR7 3 1 Division of Human Genetics, Innsbruck
00001972 - - - M ? Germany Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001973 - - - M ? Germany Caucasian - - - - SLOS ascertainment clinical presentation DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001974 - - - M ? ? (unknown);Germany Caucasian - - - - SLOS diagnosis fetal DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001975 - - - M ? Germany Caucasian - - - - SLOS diagnosis fetal; ascertainment clinical presentation; postaxial polydactyly of left hand and both feet, 2-4 toe syndactyly, hypospadia, multiple heart defects, lung hypoplasia, hypertelorism, facial dysmorphisms, DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001976 - - - M ? Germany Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly; hexadactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001977 - - - M ? United Kingdom (Great Britain) Caucasian - - - - SLOS ascertainment clinical presentation; severe DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001978 - - since age of 2 years diet at cholesterol; brother is A23 F ? United Kingdom (Great Britain) Caucasian - - - - SLOS ascertainment family analysis; facial similarities to her brother, Head circumfrence < 1 SD, hyperactive, aggressive, cleft soft palate, pyloric stenosis DHCR7 DHCR7 1 1 Division of Human Genetics, Innsbruck
00001979 - PubMed: Nezarati 2002 brother of Patient#0000027 M ? Lebanon Caucasian - - - - SLOS ascertainment clinical presentation; microcephaly, developmental delay,minor facial anomalies, minimal 2-3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001980 - PubMed: Nezarati 2002 sister of Patient#0000026 F ? Lebanon Caucasian - - - - SLOS ascertainment family analysis; failure to thrive, mild splenomegaly, moderate global cognitive delay, chronic severe behavioral problems, attention deficit disorder, 2, 3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001981 - - - F ? Austria - - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001982 - - brother of A29 M ? United Kingdom (Great Britain) Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly, polydactyly, heart anomaly, severe hypospadia, mikrocephalie DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001983 - - sister of A28 F ? United Kingdom (Great Britain) Caucasian - - - - SLOS ascertainment family analysis; 2-3 toe syndactyly; microcepahly, DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001984 - - - F ? United Kingdom (Great Britain) Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly; microcepahly, DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001985 - - - F ? Switzerland;Poland Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly; microcephaly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001986 - - - F ? Switzerland;Poland Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly; microcepahly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001987 - - fetus for retrospective diagnostic; gender is not sure ? ? United Kingdom (Great Britain) Caucasian - - - - SLOS diagnosis fetal DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001988 - PubMed: Ko 2010 Patient from Ko et al. 2010 M ? Korea, South (Republic) Asian - - - - SLOS neonatal cholestasis, microcephaly, micrognathia, a small nose with anteverted nares, ambiguous genitalia, cleft palate, simian line, (bilateral) 2-3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001989 - - - F ? Austria;Poland Caucasian - - - - SLOS 2-3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001990 - - - ? ? Germany Caucasian - - - - SLOS diagnosis fetal; ascertainment clinical presentation; 2-3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001991 - - - F ? Moldova;Germany Caucasian - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001992 - - - F ? Ireland Caucasian - - - - SLOS - DHCR7 DHCR7 1 1 Division of Human Genetics, Innsbruck
00001993 - - - M ? Ireland Caucasian - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001994 - - - F ? Ireland Caucasian - - - - SLOS ascertainment clinical presentation; seizures, 2-3 toe syndactyly, simple cystic kidney disease DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001995 - - - M ? Spain Caucasian - - - - SLOS ascertainment clinical presentation APOE, DHCR7 APOE, DHCR7 3 1 Division of Human Genetics, Innsbruck
00001996 - - - M ? Spain Caucasian - - - - SLOS ascertainment clinical presentation; cleft palate, polydactyly, 2-3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001997 - - - M ? Germany Caucasian 00y01m15d - - - SLOS ascertainment clinical presentation; microcephaly, 2-3 toe syndactyly, multiple facial dysmorphisms, cataracts, hexadactyly, cleft hard palate, progressive liver disease, ambigious genitalia DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001998 - - - M ? United Kingdom (Great Britain);Cyprus Caucasian - - - - SLOS ascertainment clinical presentation DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00001999 - - - M ? Germany Caucasian - - - - SLOS 2-3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002000 - - - ? ? Germany Caucasian - - - - SLOS diagnosis fetal DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002001 - - - F ? Turkey Caucasian - - - - SLOS 2-3 toe syndactyly, blond hair DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002002 - - - F ? Spain Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly APOE, DHCR7 APOE, DHCR7 3 1 Division of Human Genetics, Innsbruck
00002003 - - - F ? Spain Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002004 - - Fetus for respective diagnostic gender is not sure ? ? Spain Caucasian - - - - SLOS diagnosis fetal; ascertainment clinical presentation; 2-3 toe syndactyly APOE, DHCR7 APOE, DHCR7 3 1 Division of Human Genetics, Innsbruck
00002005 - : - M ? Germany Caucasian - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002006 - - Nijmegen Therapy study, diet with cholesterol and simvastatin M ? Austria Caucasian - - - - SLOS ascertainment clinical presentation; head circumference < 3 perc., seizures, 2-3 toe syndactyly, hypoplasia of lung, simple hypospadia DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002007 - - - F ? Spain Caucasian - - - - SLOS ascertainment clinical presentation; head circumference < -1 SD, ptosis, anteverted nares, 2-3 toe syndactyly, pyloric stenosis DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002008 - - since 14 years cholesterol supplementation F ? Spain Caucasian - - - - SLOS ascertainment clinical presentation; head circumference < -1 SD, ptosis, anteverted nares, cataracts, 2-3 toe syndactyly, clubfoot, pyloric stenosis DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002009 - - since 13 years cholesterol supplementation M ? Spain Caucasian - - - - SLOS ascertainment clinical presentation; head circumference < -3 SD, ptosis, anteverted nares, 2-3 toe syndactyly, clubfoot, pyloric stenosis APOE, DHCR7 APOE, DHCR7 3 1 Division of Human Genetics, Innsbruck
00002010 - - Fetus for retrospective diagnostic gender is not sure ? ? United Kingdom (Great Britain) Caucasian - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002011 - - - F ? Germany Caucasian - - - - SLOS no 2-3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002012 - - Fetus for retrospective diagnistic gender is not sure ? ? Germany Caucasian - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002013 - - - F ? Germany Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly APOE, DHCR7 APOE, DHCR7 3 1 Division of Human Genetics, Innsbruck
00002014 - - - F ? United Kingdom (Great Britain) Caucasian - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002015 - - Fetus for retrospective diagnostic gender is not sure ? ? Germany Caucasian - - - - SLOS diagnosis fetal DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002016 - - - M ? Germany Caucasian - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002017 - - - ? ? Germany Caucasian - - - - SLOS diagnosis fetal; 2-3 toe syndactyly, failure to thrive DHCR7 DHCR7 1 1 Division of Human Genetics, Innsbruck
00002018 - - - M ? Germany Caucasian - - - - SLOS - DHCR7 DHCR7 1 1 Division of Human Genetics, Innsbruck
00002019 - - diet with cholesterol M ? Finland;Morocco Caucasian - - - - SLOS ascertainment clinical presentation; head circumference < 2 perc., 2-3 toe syndactyly, high arched palate with posterior cleft, micrognathia, wide nasal root, simple hypospadia DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002020 - - see paper S. Kalb et al 2010 M ? Turkey Caucasian - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002021 - - - M ? United Kingdom (Great Britain) Caucasian - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002022 - - - M ? United Kingdom (Great Britain) Caucasian - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002023 - - - F ? Hungary Caucasian - - - - SLOS died 2006 DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002024 - - - F ? Switzerland Caucasian - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002025 - - fetus died F ? United Kingdom (Great Britain) Caucasian - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002026 - - - F ? Spain Caucasian - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002027 - - - F ? Italy Caucasian - - - - SLOS ascertainment clinical presentation; seizures, bifid uvula, minimal 2-3 toe syndactyly, pyloric stenosis DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002028 - - - M ? Germany Caucasian - - - - SLOS ascertainment clinical presentation; corpus callosum hypoplasia, polydactyly APOE, DHCR7 APOE, DHCR7 3 1 Division of Human Genetics, Innsbruck
00002029 - - - M ? Germany Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002030 - - - M ? Germany Caucasian - - - - SLOS ascertainment clinical presentation; seizures, head circumference <3 perc., cleft hard palate, clubfoot, 2-3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002031 - - - F ? Italy Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly APOE, DHCR7 APOE, DHCR7 3 1 Division of Human Genetics, Innsbruck
00002032 - - - F ? Italy Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly APOE, DHCR7 APOE, DHCR7 3 1 Division of Human Genetics, Innsbruck
00002033 - - - M ? Italy Caucasian - - - - SLOS ascertainment clinical presentation; no 2-3 toe syndactyly APOE, DHCR7 APOE, DHCR7 3 1 Division of Human Genetics, Innsbruck
00002034 - - - M ? Italy Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002035 - - - F ? Italy Caucasian - - - - SLOS ascertainment clinical presentation DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002036 - - - M ? Italy Caucasian - - - - SLOS ascertainment clinical presentation DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002037 - - - M ? Italy Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002038 - - fetus for retrospective diagnostic gender is not sure ? ? United Kingdom (Great Britain) Caucasian - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002039 - - - M ? United States Caucasian - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002040 - - - M ? United States Caucasian - - - - SLOS 2-3 toe syndactyly DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002041 - - - M ? United Kingdom (Great Britain) Caucasian - - - - SLOS ascertainment unknown DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002042 - - - F ? Germany Caucasian - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002043 - - - M ? United Kingdom (Great Britain) Caucasian - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002044 - - - F ? United Kingdom (Great Britain) Caucasian - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002045 - - - F ? Italy Caucasian - - - - SLOS 2-3 toe syndactyly, seizures, hypoplasia of the corpus callosum DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002046 - - - M ? Italy Caucasian - - - - SLOS ascertainment clinical presentation; polydactyly, 2-3 toe syndactyly, simple hypospadia DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002047 - - brother of A194 M ? Poland Caucasian - - - - SLOS ascertainment clinical presentation APOE, DHCR7 APOE, DHCR7 3 1 Division of Human Genetics, Innsbruck
00002048 - - - F ? - - - - - - SLOS ascertainment clinical presentation DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002049 - - - M ? Spain Caucasian - - - - SLOS ascertainment clinical presentation; head circumference < -3 SD, severe hypotonia, anteverted nares, coloboma, 2-3 toe syndactyly, polydactyly, reflux vesicoureteral, simple hypospadia DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002050 - - - M ? United Kingdom (Great Britain) Caucasian - - - - SLOS ascertainment clinical presentation; mild DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002051 - - - ? ? United States Caucasian, Ashkenazi jew - - - - SLOS - DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002052 - PubMed: Witsch-Baumgartner 2000 - ? ? United States Caucasian - - - - SLOS diagnosis fetal; ascertainment clinical presentation DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002053 - PubMed: Witsch-Baumgartner 2000 - ? ? United Kingdom (Great Britain) Caucasian - - - - SLOS ascertainment clinical presentation DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002054 - PubMed: Witsch-Baumgartner 2000 - ? ? - - - - - - SLOS ascertainment clinical presentation; mild DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
00002055 - PubMed: Witsch-Baumgartner 2000 - ? ? - - - - - - SLOS ascertainment clinical presentation; mild DHCR7 DHCR7 2 1 Division of Human Genetics, Innsbruck
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